Canonical Allele Identifier: CA788151450

Gene: ZNF330

Linked Data

• dbSNP Id: rs1394217344
• gnomAD v3: 4-141221601-T-C
• gnomAD v4: 4-141221601-T-C
• MyVariant Identifiers: chr4:g.142142755T>C (hg19) ; chr4:g.141221601T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.141221601T>C , CM000666.2:g.141221601T>C	GRCh38
NC_000004.11:g.142142755T>C , CM000666.1:g.142142755T>C	GRCh37
NC_000004.10:g.142362205T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000262990.9:c.-7+493T>C MANE Select	ENSP00000262990.4:n.-7+493T>C
ENST00000262990.8:c.-7+493T>C	ENSP00000262990.4:n.-7+493T>C
ENST00000503649.5:c.-7+524T>C	ENSP00000422966.1:n.-7+524T>C
ENST00000506302.1:c.-7+493T>C	ENSP00000427201.1:n.-7+493T>C
ENST00000507532.5:c.-7+493T>C	ENSP00000422574.1:n.-7+493T>C
ENST00000512738.5:c.-7+585T>C	ENSP00000422251.1:n.-7+585T>C
ENST00000512809.5:c.-7+547T>C	ENSP00000422599.1:n.-7+547T>C
ENST00000514826.5:n.222+493T>C
ENST00000515453.5:c.-7+493T>C	ENSP00000423217.1:n.-7+493T>C
NM_001292002.1:c.-116+493T>C	NP_001278931.1:n.-116+493T>C
NM_014487.5:c.-7+493T>C	NP_055302.1:n.-7+493T>C
XM_011531875.1:c.-6-765T>C	XP_011530177.1:n.-6-765T>C
XM_017008033.1:c.-6-765T>C	XP_016863522.1:n.-6-765T>C
XM_024453986.1:c.-7+524T>C	XP_024309754.1:n.-7+524T>C
NM_014487.6:c.-7+493T>C MANE Select	NP_055302.1:n.-7+493T>C
NM_001292002.2:c.-116+493T>C	NP_001278931.1:n.-116+493T>C